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autosomaal recessieve geïsoleerde opticusatrofie (aandoening)
autosomaal recessieve geïsoleerde opticusatrofie
autosomaal recessieve geïsoleerde atrofie van nervus opticus
Autosomal recessive isolated optic atrophy
Autosomal recessive non-syndromic optic atrophy
A rare hereditary optic atrophy characterized by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic disks, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia.
Id1197151003
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van linker nervus opticus
Associated morphologyatrophia
Finding sitestructuur van rechter nervus opticus
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetH47.2
TermOpticusatrofie
SNOMED CT to Orphanet simple map98676
SNOMED CT to ICD-10 extended map
TargetH47.2
RuleTRUE
AdviceALWAYS H47.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified